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Timely diagnosis of prion disease is vital if appropriate information and psychosocial support is to be made available to patients and families and appropriate arrangements made for symptomatic treatment and provision of palliative care. For many of these issues optimal management remains uncertain. Guidelines have been published by the Creutzfeldt–Jakob disease (CJD) Support Network1 suggesting that a “carefully co-ordinated multidisciplinary team” is required to provide a “flexible, family-centred approach, with specialist CJD and palliative care services”, with appointment of a keyworker “as soon as possible” to tailor appropriate response. The optimal location of the palliative care is acknowledged to depend on individual circumstances, but it is recognised that “acute neurology or psychiatric units cannot provide the appropriate environment for longer term care”. The guidelines explicitly do not address general palliative nursing care issues.
Most reports on cohorts of patients with prion disease have emanated from national referral centres. However, it is widely accepted that delivery of patient care close to or at home is the ideal. In many cases, this means regional neurological facilities. We undertook an audit of all pathologically confirmed prion disease cases seen in the catchment area of the Walton Centre for Neurology and Neurosurgery (WCNN), a regional neuroscience centre in Liverpool, UK, serving a population of around 3 million people and 14 district general hospitals (DGHs) in northwest England and north Wales, over a 12 year period (1990–2001) prior to publication of the CJD Support Network guidelines, to ascertain what management plans had been formulated or implemented for patients with prion disease.
Cases were identified through individual consultant neurologists and from the National Creutzfeldt–Jakob Disease Surveillance Unit (NCJDSU) in Edinburgh (Professor R G Will, personal communication). Symptomatic interventions and management of the terminal phase of the illness were ascertained by case note review, in particular, decisions about patient hydration and “do not resuscitate” (DNR) orders.
From 1990 through 2001, 82 patients with suspected CJD were referred from the Mersey Region to the NCJDSU (41 males, 41 females; average age 60.1 (SEM 19.7) years, range 14–90; eight patients ⩽30 years). Of these, 65 referrals were made after 1995 when the epidemic of variant CJD (vCJD) in the UK began. A total of 66 patients (80%) presented initially to non-neurologists and 44 referrals were of inpatients at WCNN, usually transferred from DGHs by visiting neurologists. A total of 38 cases were referred to NCJDSU directly from DGHs or from Alder Hey Children’s Hospital, Liverpool.
Prion disease was confirmed pathologically in 43/82 referrals, giving an overall diagnostic accuracy of 52%. Of the cases with confirmed prion disease, 33 had sporadic CJD, 8 had vCJD (some already reported2,3), and 2 had iatrogenic disease. There were no familial cases. Three patients never saw a neurologist. Of the 39 non-prion cases, eight were found to have alternative diagnoses only at post mortem, principally Alzheimer’s disease and dementia with Lewy bodies.
In none of the 43 cases with pathologically confirmed prion disease could a keyworker coordinating care be identified from case note review. Various symptomatic treatments for myoclonus, the commonest movement disorder, were tried, namely sodium valproate, clonazepam, baclofen, diazepam, and phenytoin. An empirical course of steroids to treat an undiagnosed vasculitis or autoimmune disease was given in a few cases, without benefit.
It was recorded in the notes of 32 patients (75%) that when oral fluid intake proved insufficient, fluids were given by the subcutaneous, nasogastric, or intravenous route to maintain adequate hydration. The families of only two patients opted to have a percutaneous endoscopic gastrostomy (PEG) tube placed: in one patient this continued to be in use for nearly three years, in the other, only for a period of weeks before death.
Various symptomatic treatments were used to relieve distress in the terminal phase of disease, namely diamorphine, midazolam, and cyclomorphine. In only nine cases (21%) was there any comment about cardiorespiratory resuscitation policy. In seven cases it was explicitly stated that the patient was not for resuscitation; in one case the family did not agree to a DNR policy, and in one case it was not clear what policy, if any, was agreed. All the patients died in hospital; none went to a hospice. One patient with sporadic CJD temporarily went to a nursing home, before returning to hospital to die. Nursing home placement was considered for one other patient, but the family preferred the patient to stay in hospital.
Although there are hopes for the efficacy of agents such as mepacrine and PPS, disease modifying treatment for prion disease does not currently exist. Hence, once the diagnosis is made, management is symptomatic (for example, for movement disorders, especially myoclonus, seizures, autonomic and sleep disorders, swallowing problems, and pain) and care is palliative. This being the case, provision of information and psychosocial support is of paramount importance. In the UK, patients and carers may contact various resources, such as the NCJDSU and the National Care Co-ordinator,4 the National Prion Clinic, the CJD Support Network, the Human BSE Foundation, and the CJD Advice Network (Department of Health). However, these agencies may not be able to provide local solutions to the care needs of patients and families affected with prion disease. Difficulties in finding appropriate locations for palliative care of patients with vCJD have been documented,5 leading the Department of Health to create a National Care Package.4
The heterogeneity of management revealed by our audit most likely reflects uncertainty about the optimal management of prion disease, and the absence of specific guidelines during the time covered by the audit. The development of guidelines and integrated care pathways which can address the specific issues facing patients with prion disease and their relatives in a comprehensive yet flexible manner may be helpful, although again disease rarity suggests that completing the audit cycle may be a long process. Coordination and support from at least one dedicated health professional in each regional neuroscience centre, to ensure implementation of guidelines1 and to work with local agencies such as palliative care teams, currently seems an appropriate response.
We thank Professor R G Will, National CJD Surveillance Unit, Edinburgh, for supplying details of cases referred from this region, and also our colleagues at WCNN for supplying patient details. Pauline Kelly, Ann Noble, Julie Richardson, and Lynette Roberts helped to recover hospital notes.
Competing interests: none declared
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